Product Details

SNP ID
rs200232501
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17337646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTTTGGACCCTGGCGGCCCAAG[C/G]GGCACGTGGGCCTCGCAGGTGGGGC
Phenotype
MIM: 610216 MIM: 608536
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANO8 PubMed Links

Gene Details

Gene
ANO8
Gene Name
anoctamin 8
There are no transcripts associated with this gene.

Gene
GTPBP3
Gene Name
GTP binding protein 3 (mitochondrial)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128855.2 130 Missense Mutation GCG,GGG A12G NP_001122327.1
NM_001195422.1 130 Intron NP_001182351.1
NM_032620.3 130 Missense Mutation GCG,GGG A12G NP_116009.2
NM_133644.3 130 Missense Mutation GCG,GGG A12G NP_598399.2

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